LGMD "Wywiad w centrum uwagi"

NAME:  Lisa     WIEK: 50

KRAJ:   United States of America

PODTYP LGMD:   UNKNOWN

W JAKIM WIEKU ZOSTAŁEŚ ZDIAGNOZOWANY?

I was diagnosed with LGMD when I was 45 after decades of misdiagnosis

JAKIE BYŁY PIERWSZE OBJAWY:

My initial symptoms were stiff and numb feeling muscles. But I was an athlete so normal strength test didn’t show weakness. Breathing and cardio were always a struggle too

CZY MASZ INNYCH CZŁONKÓW RODZINY, KTÓRZY CHORUJĄ NA LGMD?

My sister and nephew have same mutation but extremely mild symptoms so far ( younger).  Kids are being tested now

CO JEST DLA CIEBIE NAJWIĘKSZYM WYZWANIEM W ŻYCIU Z LGMD?

Greatest challenges are simple things. Stepping up a curb or lifting groceries and grandbabies.  Getting up from a chair, especially at restaurants etc These seem small but they effect me every day

JAKIE JEST TWOJE NAJWIĘKSZE OSIĄGNIĘCIE?

My greatest accomplishment will always be my kids. My youngest is 12. My biggest fear is not being there for him the way I have been for the rest

JAK CHOROBA ALZHEIMERA WPŁYNĘŁA NA TO, ŻE STAŁEŚ SIĘ OSOBĄ, KTÓRĄ JESTEŚ DZISIAJ:

Difficult question. I try not to let it change me but it does anyway.  I am certainly more aware of challenges people face. Not just my own and not just physically.  I am not a person who likes to depend on others.  I am slowly having to figure out how to accept help without being discouraged

CO ŚWIAT POWINIEN WIEDZIEĆ O LGMD?

That it still exists.  That it comes in many forms and there is still no treatment.  I pray daily that gene therapy will be fast tracked

GDYBY JUTRO MOŻNA BYŁO "WYLECZYĆ" CHOROBĘ ALZHEIMERA, CO BYŁOBY PIERWSZĄ RZECZĄ, KTÓRĄ CHCIAŁBYŚ ZROBIĆ:

If my LGMD was cured tomorrow I would take my kids to Ireland ( I am Irish).   I would then get back to flipping houses which I love and can no longer do